Results 171 to 180 of about 59,501 (281)

Gene Therapy for Amino Acid Decarboxylase Deficiency: Clinical and Imaging Outcomes in a French Cohort

Movement Disorders, EarlyView.
Abstract Background Intracerebral gene therapy is effective for amino acid decarboxylase (AADC) deficiency, but relationships between anatomical putaminal coverage, metabolic dynamics, and clinical recovery remain poorly understood. Objectives Assess safety, long‐term efficacy, and clinical–radiological correlations in a genetically diverse European ...
Clément Dunoyer, Gaëtan Poulen, Marie‐Céline François‐Heude, Eline Chauvet‐Piat, Bérénice Lecardonnel, Emmanuel Roze, Marie‐Ange Nguyen Morel, Domitille Gras, Adeline Quintard, Gaelle Baroux, Pierre Meyer, Philippe Coubes, Christophe Milesi, Julien Baleine, Chrystelle Sola, Vivien Szabo, Bénédicte Delye, Jana Haberlova, Mohamed Osman Eltahir Babiker, Mohammed Al Muqbil, Stéphanie Sanchez, Souad Touati, Nicolas Leboucq, Virginie Kouyoumdjian, Sylvia Sanquer, Denis Mariano‐Goulart, Thomas Roujeau, Agathe Roubertie   +27 more
wiley   +1 more source

Identification of a Novel <i>SLC18A2</i> Splicing Variant in a Case of Infantile Parkinsonism-Dystonia Type 2. [PDF]

Case Rep Neurol Med
Nikkhah A, Badv RS, Habibi SAH, Zorzi G, Mehdizadeh M.   +4 more
europepmc   +1 more source

Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi‐omics

Movement Disorders, EarlyView.
Abstract Background Long‐read sequencing and multi‐omic analytical frameworks are increasingly being adopted in rare disease diagnostics. However, clinical workflows comprehensively integrating these methodologies remain uncommon. Objective This study aimed to assess the potential and limitations of integrating long‐read genomic, transcriptomic, and ...
Ugo Sorrentino, Melanie Brugger, Alice Saparov, Ivana Dzinovic, Philip Harrer, Sandy Lösecke, Kevork Derderian, Martin Pavlov, Robert Kopajtich, Holger Prokisch, Arcangela Iuso, Maria Mazurkiewicz‐Bełdzińska, Deike Weiss, Christina Ludwig, Miriam Abele, Julia Mergner, Juliane Winkelmann, Theresa Brunet, Michał Schinwelski, Elisabeth Graf, Katja Kloth‐Stachnau, Theresia Herget, Magdalena Krygier, Michael Zech   +23 more
wiley   +1 more source

Why Use Immersive Virtual Reality to Assess Gait in Functional Motor Disorders?

Movement Disorders, EarlyView.
Abstract Background Functional motor disorders (FMD) are disabling conditions modulated by attentional demands. Immersive virtual reality (iVR) engages multiple attentional and sensory networks, but its application in people with FMD (PwFMD) remains limited.
Marialuisa Gandolfi, Chiara Bonetto, Corrado Perin, Angela Sandri, Giulia Bonardi, Ilaria Antonella Di Vico, Laura Avanzino, Elisa Pelosin, Mauro Crestani, Christian Geroin, Denis Vidale, Marco Pirini, Mirta Fiorio, Michele Tinazzi, Francesca Salaorni   +14 more
wiley   +1 more source

Dystonia 3×3: A Training Guideline for Beginners in Botulinum Neurotoxin Treatment of Cervical Dystonia. [PDF]

Toxins (Basel)
Paus S, Funke A, Hamacher J, Haslinger B, Heckelmann J, Ip CW, Jost WH, Kivi A, Klebe S, Lee JI, Lohmann E, Mack F, Schramm A, Stenner A, Tacik P, Walter U, Weise DT.   +16 more
europepmc   +1 more source

Cannabis‐Based Oil for Pain and Other Non‐Motor Symptoms in Parkinson's Disease: A Randomized Controlled Trial

Movement Disorders, EarlyView.
Abstract Background There is a lack of treatments for non‐motor symptoms (NMS) in Parkinson's disease (PD). Objective To assess the safety and effectiveness of an oral Cannabis sativa L. extract on pain and other NMS of PD. Methods This phase II, randomized, placebo‐controlled trial evaluated a formulation containing cannabidiol (CBD; 96 mg/ml) and Δ9 ...
Gabriel T. Kubota, Jacy B. Parmera, Matheus Deltreggia, Pedro N. Martins, Anna Letícia M. Alves, Ananda C.M. de Falcone, Ana Rosa Santana, Maria Alice P. Falcão, Mayara A. Dias, Larissa I. Moreira, Paulo C. de Fonseca Filho, Eberval G. Figueiredo, Egberto R. Barbosa, Rubens G. Cury, Daniel C. de Andrade   +14 more
wiley   +1 more source

Deutetrabenazine in Hyperkinetic Movement Disorders: VMAT2 Modulation From Choreiform Disorders to Hyperkinetic Dystonic Syndromes. [PDF]

J Cent Nerv Syst Dis
Fang Y, Lu Y, Zhu S, Huang S.
europepmc   +1 more source

Joint Risk Factor Combinations with Additive Interaction Increase the Risk of Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Combined effects of multiple risk factors on incident late‐onset Parkinson's disease (PD; LOPD) remain poorly characterized. Objective The objective of this study was to quantify the impact of joint risk exposures and estimate the contribution of potentially modifiable factors to incident LOPD risk.
Andrea Quattrone, Basilio Vescio, Fulvia Arcuri, Giuseppe Chiarella, Jolanda Buonocore, Aldo Quattrone   +5 more
wiley   +1 more source

Focal Task-Specific Dystonia Beyond M1: Network Adaptations and a Causal-Architecture Taxonomy of Dystonia. [PDF]

Brain Sci
Lu N, Pena RFO.
europepmc   +1 more source

Rare‐Variant Burden Analysis of Dystonia Genes in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Dystonia frequently coexists with Parkinson's disease (PD), yet the extent of genetic overlap remains insufficiently explored. Objective The aim was to examine whether rare variants in dystonia‐related genes are associated with PD or early‐onset PD (EOPD).
Sajanth Kanagasingam, Sitki Cem Parlar, Lang Liu, Ziv Gan‐Or, Konstantin Senkevich   +4 more
wiley   +1 more source